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. 2017 Aug 29;7:9810. doi: 10.1038/s41598-017-09247-5

Table 2.

Statistics for sequence-read coverages and rare variants leading to the causal variants for rare genetic diseases in each patient.

Captured regions 307 genes 211 genes 65 genes
Sum of reads on target regions 575 Mb 138 Mb 109 Mb 43 Mb
On target rates1 30% 7.20% 5.20% 2.20%
Length of target regions 3.7 Mb 1.3 Mb 0.9 Mb 0.35 Mb
Mean read depth2 161× 128× 120× 127×
Number of variants NA 1186 762 271
Number of rare variants with probable deleterious effects NA 8.6 6.2 3.4
Number of disease candidates NA 3.6 2.7 1.8

1[(Sum of reads on target regions)/(sum of all reads, 2.1 Gigabytes)] × 100. 2(Sum of reads on target regions)/(length of target regions).